Variant report

Variant	rs547155681
Chromosome Location	chr19:39998207-39998208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
2	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
3	chr19:39970404..39973001-chr19:39996294..39998434,3	K562	blood:
4	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:
5	chr19:39988036..39992269-chr19:39996706..39999798,3	K562	blood:
6	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
7	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:

Variant related genes	Relation type
ENSG00000105197	Chromatin interaction
ENSG00000090932	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv934226	chr19:39997946-39998341	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv933946	chr19:39998043-39998341	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39997200-39999000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:39997400-39998400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:39997400-39998400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
4	chr19:39997400-39998400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:39997400-39998400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr19:39997400-39998400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:39997400-39998400	Bivalent Enhancer	Fetal Heart	heart
8	chr19:39997400-39998400	Active TSS	A549	lung
9	chr19:39997400-39998400	Flanking Active TSS	HMEC	breast
10	chr19:39997400-39998600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:39997400-39998600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr19:39997400-39998600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:39997400-39998600	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr19:39997400-39998800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:39997400-39998800	Active TSS	HSMM	muscle
16	chr19:39997400-39999000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:39997600-39998400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:39997600-39998400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr19:39997600-39998400	Active TSS	Brain Germinal Matrix	brain
24	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr19:39997600-39998400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:39997600-39998400	Flanking Active TSS	Gastric	stomach
27	chr19:39997600-39998400	Flanking Active TSS	Ovary	ovary
28	chr19:39997600-39998400	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr19:39997600-39998600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:39997600-39998600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:39997600-39998600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:39997600-39998600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:39997600-39998600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:39997600-39998600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:39997600-39998600	Active TSS	HSMMtube	muscle
36	chr19:39997600-39998600	Bivalent/Poised TSS	Osteobl	bone
37	chr19:39997600-39998800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr19:39997600-39998800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:39997600-39998800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:39997600-39998800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr19:39997600-39998800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr19:39997600-39999000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr19:39997600-39999000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr19:39997600-39999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr19:39997600-39999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:39997800-39998400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:39997800-39998600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:39997800-39998600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:39997800-39998600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr19:39998000-39998400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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